Global InformationSevere achondroplasia with developmental delay and acanthosis nigricans information
| Severe achondroplasia with developmental delay and acanthosis nigricans | |
|---|---|
| Other names | SADDAN[1] |
 | |
| Severe achondroplasia with developmental delay and acanthosis nigricans is inheried in an autosomal dominant manner.[2] | |
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder. This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities.[3][4] Those affected by the disorder are severely short in height and commonly possess shorter arms and legs.[3][4] In addition, the bones of the legs are often bowed and the affected have smaller chests with shorter rib bones, along with curved collarbones.[3][4] Other symptoms of the disorder include broad fingers and extra folds of skin on the arms and legs.[3][4] Developmentally, many individuals who suffer from the disorder show a higher level in delays and disability. Seizures are also common due to structural abnormalities of the brain.[3][4] Those affected may also suffer with apnea, the slowing or loss of breath for short periods of time.[3][4]
Many of the features of SADDAN are similar to those seen in other skeletal disorders, specifically achondroplasia and thanatophoric dysplasia. Achondroplasia is a form of short-limbed dwarfism. This type of dwarfism is caused by the inability of the cartilage of the skeleton to ossify and turn to bone.[5] Acanthosis nigricans is a skin condition in which areas of the skin is of a dark and velvety discoloration, often seen in the body folds and creases such as the armpits, groin, and neck.[6] Within those affected by SADDAN, acanthosis nigricans develops early on, usually in infancy or early childhood.[4]
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Severe achondroplasia developmental delay acanthosis nigricans syndrome". www.orpha.net. Retrieved 24 October 2019.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - # 616482 - ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS; SADDAN". omim.org. Retrieved 6 January 2018.
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